neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome

Term ID

DOID:0081396

Synonyms

• PHRINL syndrome

Definition

A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound heterozygous mutation in the ATAD3A gene on chromosome 1p36.33. https://pubmed.ncbi.nlm.nih.gov/28549128/

References

• MIM:618810
• ORDO:615983

Ontology

Human Disease   ( DOID:0081396 )